C19orf67

Summary

C19orf67 (chromosome 19 open reading frame 67, HGNC:34354) is a protein-coding gene on chromosome 19p13.12, encoding UPF0575 protein C19orf67 (A6NJJ6).

Predicted to act upstream of or within in utero embryonic development.

Source: NCBI Gene 646457 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001277378

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34354
Approved symbol	C19orf67
Name	chromosome 19 open reading frame 67
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000188032
Ensembl biotype	protein_coding
Entrez	646457

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000343945, ENST00000547589, ENST00000548523

RefSeq mRNA: 1 — MANE Select: NM_001277378 NM_001277378

CCDS: CCDS59360

Canonical transcript exons

ENST00000548523 — 6 exons

Exon	Start	End
ENSE00001366162	14083505	14083605
ENSE00001381312	14085293	14085783
ENSE00001382182	14082469	14082603
ENSE00001387859	14083237	14083422
ENSE00002415488	14081624	14082008
ENSE00003568840	14083733	14083877

Expression profiles

Bgee: expression breadth broad, 72 present calls, max score 84.06.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0201 / max 11.9482, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179598	0.0201	4

Top tissues by expression

88 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.06	silver quality
left testis	UBERON:0004533	69.29	gold quality
testis	UBERON:0000473	68.64	gold quality
right testis	UBERON:0004534	66.62	gold quality
bone marrow cell	CL:0002092	52.95	gold quality
placenta	UBERON:0001987	50.83	gold quality
right uterine tube	UBERON:0001302	50.49	gold quality
mucosa of transverse colon	UBERON:0004991	48.10	gold quality
sural nerve	UBERON:0015488	45.45	gold quality
cortex of kidney	UBERON:0001225	45.31	silver quality
right coronary artery	UBERON:0001625	45.26	gold quality
endocervix	UBERON:0000458	44.68	gold quality
lower esophagus mucosa	UBERON:0035834	44.05	silver quality
stomach	UBERON:0000945	43.82	gold quality
metanephros cortex	UBERON:0010533	43.78	gold quality
body of stomach	UBERON:0001161	43.62	gold quality
superior frontal gyrus	UBERON:0002661	43.37	silver quality
bone marrow	UBERON:0002371	43.11	gold quality
granulocyte	CL:0000094	43.06	silver quality
body of pancreas	UBERON:0001150	42.60	silver quality
transverse colon	UBERON:0001157	42.48	gold quality
kidney	UBERON:0002113	42.17	silver quality
fundus of stomach	UBERON:0001160	41.92	gold quality
uterine cervix	UBERON:0000002	41.83	silver quality
right lobe of thyroid gland	UBERON:0001119	41.74	gold quality
colonic epithelium	UBERON:0000397	41.71	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	41.57	gold quality
urinary bladder	UBERON:0001255	41.16	gold quality
minor salivary gland	UBERON:0001830	41.13	silver quality
myometrium	UBERON:0001296	40.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

4 targeting C19orf67, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4313	97.18	63.15	420
HSA-MIR-6068	92.95	63.01	67

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-214c7.5	ENSDARG00000060187
mus_musculus	1700067K01Rik	ENSMUSG00000046408
rattus_norvegicus	C19h19orf67	ENSRNOG00000005533

Protein

Protein identifiers

UPF0575 protein C19orf67 — A6NJJ6 (reviewed: A6NJJ6)

All UniProt accessions (2): A6NJJ6, A0A0A0MRA4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0575 family.

RefSeq proteins (1): NP_001264307* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021748	DUF3314	Family

Pfam: PF11771

UniProt features (4 total): compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NJJ6-F1	73.54	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT, chr19p13, MEISSNER_BRAIN_HCP_WITH_H3_UNMETHYLATED, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, MARTENS_TRETINOIN_RESPONSE_UP, GLI1_TARGET_GENES, GSE13306_TREG_RA_VS_TCONV_RA_UP, GSE15324_NAIVE_VS_ACTIVATED_ELF4_KO_CD8_TCELL_UP, MEF2C_TARGET_GENES, NCOA4_TARGET_GENES, MYOCD_TARGET_GENES, GSE8621_LPS_PRIMED_UNSTIM_VS_LPS_PRIMED_AND_LPS_STIM_MACROPHAGE_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf67	C19orf53	Q9UNZ5	584
C19orf67	YJU2B	P13994	542
C19orf67	BRME1	Q0VDD7	541
C19orf67	ZSWIM4	Q9H7M6	477
C19orf67	PALM3	A6NDB9	476
C19orf67	PODNL1	Q6PEZ8	474
C19orf67	SAMD1	Q6SPF0	471
C19orf67	SLC67A1-AS	Q8N1D0	419
C19orf67	ADGRE3	Q9BY15	418
C19orf67	DCAF15	Q66K64	400
C19orf67	MRI1	Q9BV20	397
C19orf67	ANO10	Q9NW15	380
C19orf67	RIT2	Q99578	380
C19orf67	CC2D1A	Q6P1N0	375
C19orf67	NREP	Q16612	371

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVZ6, A0A1W2PR82, A0A286YDK6, A2A9F4, A2VE02, A5D7I0, A6H7B4, A6NE82, A6NEV1, A6NJB7, A6NJI1, A6NJJ6, A6QP24, A6QPM6, A8MZG2, D3ZAQ5, D4AAA5, O94850, O95873, P0C7X2, P50617, P70339, Q0P5M0, Q2KIL8, Q2KIS6, Q3UN58, Q3ZCQ2, Q5JPB2, Q5M844, Q5VZ46, Q6AY88, Q6GQX2, Q6NZ36, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86YN6, Q8C1M2, Q8K2F3

Diamond homologs: A3KNM4, A6NJJ6, Q8CF25

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1035 predictions. Top by Δscore:

Variant	Effect	Δscore
19:14082484:T:TA	donor_gain	1.0000
19:14083235:A:AC	donor_gain	1.0000
19:14083236:C:CG	donor_gain	1.0000
19:14083236:CTA:C	donor_gain	1.0000
19:14083236:CTAAT:C	donor_gain	1.0000
19:14083285:T:TA	donor_gain	1.0000
19:14083403:C:CT	acceptor_gain	1.0000
19:14083403:C:T	acceptor_gain	1.0000
19:14083421:TG:T	acceptor_gain	1.0000
19:14083423:C:CC	acceptor_gain	1.0000
19:14083601:AACAG:A	acceptor_gain	1.0000
19:14083602:ACAG:A	acceptor_gain	1.0000
19:14083603:CAG:C	acceptor_gain	1.0000
19:14083603:CAGC:C	acceptor_gain	1.0000
19:14083604:AG:A	acceptor_gain	1.0000
19:14083606:C:CC	acceptor_gain	1.0000
19:14083606:CT:C	acceptor_loss	1.0000
19:14083609:C:CT	acceptor_gain	1.0000
19:14083610:A:AC	acceptor_gain	1.0000
19:14083610:A:C	acceptor_gain	1.0000
19:14083613:C:CT	acceptor_gain	1.0000
19:14083614:A:T	acceptor_gain	1.0000
19:14083724:T:TA	donor_gain	1.0000
19:14083731:AC:A	donor_gain	1.0000
19:14083732:CC:C	donor_gain	1.0000
19:14083749:T:TA	donor_gain	1.0000
19:14082463:TCCTA:T	donor_loss	0.9900
19:14082464:CCTA:C	donor_loss	0.9900
19:14082465:CTACC:C	donor_loss	0.9900
19:14082466:TACCA:T	donor_loss	0.9900

AlphaMissense

2282 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:14082524:A:G	W283R	0.999
19:14082524:A:T	W283R	0.999
19:14083295:A:G	W237R	0.999
19:14083295:A:T	W237R	0.999
19:14082509:A:G	W288R	0.998
19:14082509:A:T	W288R	0.998
19:14082521:A:G	S284P	0.997
19:14083293:C:A	W237C	0.997
19:14083293:C:G	W237C	0.997
19:14082522:C:A	W283C	0.996
19:14082522:C:G	W283C	0.996
19:14083294:C:G	W237S	0.996
19:14083305:C:A	K233N	0.996
19:14083305:C:G	K233N	0.996
19:14083402:C:T	G201E	0.996
19:14083403:C:A	G201W	0.996
19:14081922:A:G	L330P	0.995
19:14082507:C:A	W288C	0.995
19:14082507:C:G	W288C	0.995
19:14083583:A:G	L168P	0.995
19:14082514:C:T	G286D	0.994
19:14082517:A:T	I285N	0.994
19:14083562:A:G	L175P	0.994
19:14081946:G:T	P322H	0.993
19:14082591:G:C	C260W	0.993
19:14082593:A:G	C260R	0.993
19:14083395:G:C	F203L	0.993
19:14083395:G:T	F203L	0.993
19:14083397:A:G	F203L	0.993
19:14083402:C:A	G201V	0.993

dbSNP variants (sampled 300 via entrez): RS1000194596 (19:14086152 C>G), RS1000527823 (19:14086342 T>A), RS1000562963 (19:14083278 G>A), RS1000726785 (19:14086197 T>C), RS1000847630 (19:14083548 C>T), RS1001726952 (19:14082901 A>C), RS1002260049 (19:14081658 C>T), RS1002581452 (19:14085834 C>T), RS1003081758 (19:14087370 C>G), RS1003130977 (19:14087589 A>G), RS1003291554 (19:14081469 C>A,T), RS1003311542 (19:14082939 G>A), RS1003407527 (19:14081208 C>T), RS1003994790 (19:14087111 T>C), RS1004407800 (19:14086085 ATTTT>A,ATTTTT)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.